Incidental Mutation 'R7338:Bcl9l'
| ID |
569651 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bcl9l
|
| Ensembl Gene |
ENSMUSG00000063382 |
| Gene Name |
B cell CLL/lymphoma 9-like |
| Synonyms |
DLNB11 |
| MMRRC Submission |
045428-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7338 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
44482825-44511896 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 44508708 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 1137
(N1137S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074516
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062215]
[ENSMUST00000074989]
[ENSMUST00000179828]
[ENSMUST00000215293]
[ENSMUST00000218183]
[ENSMUST00000220303]
|
| AlphaFold |
Q67FY2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062215
|
| SMART Domains |
Protein: ENSMUSP00000050444
Gene: ENSMUSG00000047880
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
70 |
324 |
8.9e-62 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074989
AA Change: N1137S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000074516
Gene: ENSMUSG00000063382
AA Change: N1137S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
215 |
234 |
N/A |
INTRINSIC |
|
PDB:2XB1|C
|
236 |
269 |
2e-14 |
PDB |
|
low complexity region
|
278 |
292 |
N/A |
INTRINSIC |
|
low complexity region
|
297 |
325 |
N/A |
INTRINSIC |
|
low complexity region
|
337 |
376 |
N/A |
INTRINSIC |
|
Pfam:BCL9
|
395 |
432 |
2.4e-18 |
PFAM |
|
low complexity region
|
490 |
507 |
N/A |
INTRINSIC |
|
low complexity region
|
521 |
534 |
N/A |
INTRINSIC |
|
low complexity region
|
546 |
560 |
N/A |
INTRINSIC |
|
low complexity region
|
590 |
602 |
N/A |
INTRINSIC |
|
low complexity region
|
766 |
783 |
N/A |
INTRINSIC |
|
low complexity region
|
835 |
852 |
N/A |
INTRINSIC |
|
low complexity region
|
1042 |
1059 |
N/A |
INTRINSIC |
|
low complexity region
|
1114 |
1127 |
N/A |
INTRINSIC |
|
low complexity region
|
1167 |
1178 |
N/A |
INTRINSIC |
|
low complexity region
|
1232 |
1245 |
N/A |
INTRINSIC |
|
low complexity region
|
1262 |
1273 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179828
|
| SMART Domains |
Protein: ENSMUSP00000137518
Gene: ENSMUSG00000047880
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
70 |
324 |
1.7e-52 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215293
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218183
AA Change: N1137S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220303
AA Change: N1100S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (54/55) |
| MGI Phenotype |
PHENOTYPE: Mice carrying homozygous floxed Bcl9 and Bcl9l alleles, inactivated in muscle cells, exhibit impaired muscle regeneration due to increased apoptosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
C |
17: 24,376,743 (GRCm38) |
S357P |
possibly damaging |
Het |
| Arhgap28 |
T |
C |
17: 67,896,111 (GRCm38) |
R166G |
probably damaging |
Het |
| Bcan |
T |
A |
3: 87,994,243 (GRCm38) |
E384V |
probably damaging |
Het |
| Caprin1 |
A |
G |
2: 103,779,423 (GRCm38) |
L170S |
probably benign |
Het |
| Card6 |
C |
T |
15: 5,099,872 (GRCm38) |
E681K |
probably benign |
Het |
| Catsperb |
G |
A |
12: 101,480,984 (GRCm38) |
V248I |
probably benign |
Het |
| Ccnj |
T |
A |
19: 40,837,033 (GRCm38) |
H62Q |
probably damaging |
Het |
| Cd180 |
A |
C |
13: 102,706,428 (GRCm38) |
I661L |
probably benign |
Het |
| Cdk11b |
A |
G |
4: 155,647,551 (GRCm38) |
R473G |
unknown |
Het |
| Cep126 |
T |
C |
9: 8,099,798 (GRCm38) |
T912A |
possibly damaging |
Het |
| Chek2 |
T |
A |
5: 110,873,514 (GRCm38) |
V530E |
probably benign |
Het |
| Chga |
G |
T |
12: 102,562,841 (GRCm38) |
S359I |
probably damaging |
Het |
| Cnrip1 |
T |
C |
11: 17,054,657 (GRCm38) |
V69A |
probably damaging |
Het |
| Cyp2a5 |
A |
T |
7: 26,842,947 (GRCm38) |
Q458L |
probably damaging |
Het |
| Cyp2j11 |
T |
A |
4: 96,307,287 (GRCm38) |
T391S |
possibly damaging |
Het |
| Dhx16 |
T |
C |
17: 35,888,144 (GRCm38) |
L794P |
probably damaging |
Het |
| Dscaml1 |
A |
G |
9: 45,674,504 (GRCm38) |
T580A |
probably benign |
Het |
| Elmo1 |
A |
T |
13: 20,280,812 (GRCm38) |
I184L |
probably benign |
Het |
| Gabra1 |
C |
T |
11: 42,182,294 (GRCm38) |
G51S |
unknown |
Het |
| Gabrr3 |
C |
A |
16: 59,448,076 (GRCm38) |
L351I |
possibly damaging |
Het |
| Gbp7 |
A |
T |
3: 142,538,025 (GRCm38) |
N111I |
probably damaging |
Het |
| Gjd2 |
C |
T |
2: 114,011,102 (GRCm38) |
R298H |
probably damaging |
Het |
| Gm5930 |
T |
C |
14: 44,336,457 (GRCm38) |
Y141C |
probably damaging |
Het |
| Grin3a |
G |
T |
4: 49,771,238 (GRCm38) |
N511K |
probably benign |
Het |
| Hdac7 |
T |
C |
15: 97,810,022 (GRCm38) |
D122G |
probably benign |
Het |
| Ifi204 |
G |
A |
1: 173,760,137 (GRCm38) |
T152I |
possibly damaging |
Het |
| Lrrc9 |
C |
T |
12: 72,463,531 (GRCm38) |
|
probably null |
Het |
| Med21 |
T |
A |
6: 146,642,584 (GRCm38) |
|
probably benign |
Het |
| Mmp19 |
A |
T |
10: 128,799,083 (GRCm38) |
T523S |
probably benign |
Het |
| Nav3 |
G |
A |
10: 109,769,212 (GRCm38) |
T1000I |
probably benign |
Het |
| Nin |
T |
C |
12: 70,044,064 (GRCm38) |
D859G |
|
Het |
| Nip7 |
T |
G |
8: 107,057,284 (GRCm38) |
L52R |
possibly damaging |
Het |
| Olfr1039 |
A |
T |
2: 86,131,382 (GRCm38) |
F94I |
probably damaging |
Het |
| Olfr524 |
A |
T |
7: 140,202,533 (GRCm38) |
V79E |
probably benign |
Het |
| Olfr934 |
A |
G |
9: 38,982,520 (GRCm38) |
Y175H |
probably damaging |
Het |
| Otop1 |
T |
A |
5: 38,300,203 (GRCm38) |
Y435* |
probably null |
Het |
| Pak4 |
A |
G |
7: 28,564,956 (GRCm38) |
S174P |
probably benign |
Het |
| Pcsk7 |
G |
A |
9: 45,925,989 (GRCm38) |
R537Q |
probably benign |
Het |
| Podxl |
G |
A |
6: 31,529,006 (GRCm38) |
S34F |
unknown |
Het |
| Prr36 |
G |
A |
8: 4,216,212 (GRCm38) |
R113C |
probably damaging |
Het |
| Ptk7 |
T |
C |
17: 46,579,599 (GRCm38) |
I436V |
probably benign |
Het |
| Slc13a5 |
C |
T |
11: 72,266,484 (GRCm38) |
V28I |
probably benign |
Het |
| Slc9a3r2 |
T |
A |
17: 24,650,208 (GRCm38) |
|
probably benign |
Het |
| Slco6d1 |
A |
T |
1: 98,421,372 (GRCm38) |
D56V |
probably benign |
Het |
| Spg11 |
G |
A |
2: 122,055,377 (GRCm38) |
R2317W |
probably damaging |
Het |
| Stom |
T |
A |
2: 35,323,748 (GRCm38) |
|
probably null |
Het |
| Svs5 |
T |
C |
2: 164,332,808 (GRCm38) |
L8P |
possibly damaging |
Het |
| Tmem141 |
C |
A |
2: 25,621,614 (GRCm38) |
V39F |
probably damaging |
Het |
| Tmprss6 |
A |
G |
15: 78,459,819 (GRCm38) |
L181P |
probably damaging |
Het |
| Tnni3 |
A |
G |
7: 4,521,380 (GRCm38) |
S40P |
probably benign |
Het |
| Tubgcp4 |
A |
G |
2: 121,193,984 (GRCm38) |
I548V |
probably benign |
Het |
| Twf2 |
A |
G |
9: 106,203,939 (GRCm38) |
|
probably benign |
Het |
| Wnt5b |
C |
A |
6: 119,448,131 (GRCm38) |
|
probably null |
Het |
| Wrap73 |
A |
G |
4: 154,152,586 (GRCm38) |
D210G |
probably benign |
Het |
| Yipf4 |
T |
G |
17: 74,489,776 (GRCm38) |
S21A |
probably benign |
Het |
| Zscan20 |
A |
G |
4: 128,588,150 (GRCm38) |
M573T |
probably benign |
Het |
|
| Other mutations in Bcl9l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00753:Bcl9l
|
APN |
9 |
44,505,627 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
IGL00969:Bcl9l
|
APN |
9 |
44,508,242 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
IGL01011:Bcl9l
|
APN |
9 |
44,505,179 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
IGL01396:Bcl9l
|
APN |
9 |
44,506,824 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02015:Bcl9l
|
APN |
9 |
44,508,801 (GRCm38) |
splice site |
probably null |
|
|
IGL02106:Bcl9l
|
APN |
9 |
44,509,199 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL02310:Bcl9l
|
APN |
9 |
44,509,305 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02447:Bcl9l
|
APN |
9 |
44,507,334 (GRCm38) |
missense |
probably benign |
0.09 |
|
IGL02534:Bcl9l
|
APN |
9 |
44,505,739 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02541:Bcl9l
|
APN |
9 |
44,507,769 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL02688:Bcl9l
|
APN |
9 |
44,505,263 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
IGL02931:Bcl9l
|
APN |
9 |
44,500,750 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R0098:Bcl9l
|
UTSW |
9 |
44,505,617 (GRCm38) |
missense |
probably benign |
|
|
R0142:Bcl9l
|
UTSW |
9 |
44,507,112 (GRCm38) |
missense |
probably benign |
0.09 |
|
R0193:Bcl9l
|
UTSW |
9 |
44,507,406 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0227:Bcl9l
|
UTSW |
9 |
44,505,236 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R0481:Bcl9l
|
UTSW |
9 |
44,506,682 (GRCm38) |
missense |
probably benign |
|
|
R0496:Bcl9l
|
UTSW |
9 |
44,509,518 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1741:Bcl9l
|
UTSW |
9 |
44,509,689 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1971:Bcl9l
|
UTSW |
9 |
44,508,699 (GRCm38) |
splice site |
probably null |
|
|
R1976:Bcl9l
|
UTSW |
9 |
44,506,152 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R4415:Bcl9l
|
UTSW |
9 |
44,501,879 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R4751:Bcl9l
|
UTSW |
9 |
44,506,803 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4810:Bcl9l
|
UTSW |
9 |
44,508,353 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4880:Bcl9l
|
UTSW |
9 |
44,508,710 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4967:Bcl9l
|
UTSW |
9 |
44,505,068 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R5418:Bcl9l
|
UTSW |
9 |
44,505,436 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R5572:Bcl9l
|
UTSW |
9 |
44,500,798 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R5658:Bcl9l
|
UTSW |
9 |
44,509,169 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5812:Bcl9l
|
UTSW |
9 |
44,506,644 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6515:Bcl9l
|
UTSW |
9 |
44,507,874 (GRCm38) |
splice site |
probably null |
|
|
R6670:Bcl9l
|
UTSW |
9 |
44,507,072 (GRCm38) |
small insertion |
probably benign |
|
|
R6682:Bcl9l
|
UTSW |
9 |
44,501,103 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R6966:Bcl9l
|
UTSW |
9 |
44,509,388 (GRCm38) |
nonsense |
probably null |
|
|
R7171:Bcl9l
|
UTSW |
9 |
44,505,151 (GRCm38) |
missense |
probably benign |
0.33 |
|
R7448:Bcl9l
|
UTSW |
9 |
44,509,337 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7609:Bcl9l
|
UTSW |
9 |
44,505,747 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7793:Bcl9l
|
UTSW |
9 |
44,509,697 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R7793:Bcl9l
|
UTSW |
9 |
44,508,966 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8372:Bcl9l
|
UTSW |
9 |
44,507,231 (GRCm38) |
missense |
probably benign |
|
|
R8491:Bcl9l
|
UTSW |
9 |
44,500,768 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8769:Bcl9l
|
UTSW |
9 |
44,508,966 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8945:Bcl9l
|
UTSW |
9 |
44,500,941 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R9355:Bcl9l
|
UTSW |
9 |
44,507,703 (GRCm38) |
missense |
probably benign |
0.09 |
|
R9562:Bcl9l
|
UTSW |
9 |
44,500,779 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R9564:Bcl9l
|
UTSW |
9 |
44,509,257 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTTGCTTAGGAATTGCCCC -3'
(R):5'- TGAGTTTTGAGAAGAGCCCC -3'
Sequencing Primer
(F):5'- TTAGGAATTGCCCCCGTGGAC -3'
(R):5'- AGTTTTGAGAAGAGCCCCCAGTC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation